MAP1B, microtubule associated protein 1B, 4131

N. diseases: 59; N. variants: 7
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE MAP1B mutations have recently been associated with a phenotype including periventricular nodular heterotopia (PVNH), intellectual disability (ID), seizures, and dysmorphic features. 31317654 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker group GENOMICS_ENGLAND De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. 29738522 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE MAP1B mutations cause intellectual disability and extensive white matter deficit. 30150678 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE In addition, we found a genomic deletion encompassing MAP1B in one patient with intellectual disability, microcephaly and seizures and deletions encompassing MYO16 in two unrelated patients with intellectual disability, autism and microcephaly. 25902260 2015